Kampal: Artificial Intelligence for rare disease diagnosis

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The Foundation aims to predict the correation with other disease in patients of Gaucher disease. For this purpose, it was developed an advanced analytical model based on Artificial Intelligence with the information in the Gaucher Spanish Disease Registry.

Duration in months: 12

Problem Description

The Foundation is interested in predicting the probability of development of diseases such as neoplasms or Parkinson’s disease in patients of Gaucher disease (correlations between diseases).

Goals

New services

Challenges

The pilot required extra computational resources to cope with the problem size (1 million samples).

Innovation results

Kampal Data Solutions has created a machine learning model for handling big data samples using EOSC DIH's cloud infrastructure. The model generates extra data based on normal values, resulting in a big data sample that closely resembles the natural proportion of Gaucher Disease patients.

Business impact

Although the obtained results do not have medical value, this proof of concept shows that the chosen model is scalable and may be efficiently applied to other conditions or illnesses where more data is available. The challenge now will be to identify the business opportunities to exploit the model.

Project page

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